A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv311n100



Internal ID22786398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121465264..121581620hg38UCSC Ensembl
chr1:121207118..121323418hg19UCSC Ensembl
chr1:120908641..121024941hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38116357
hg19116301
hg18116301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013773, nsv1008215
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv311n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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